	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 27642

FusionGeneSummary for PLEKHG5_SAMD4B

Fusion gene summary

Fusion gene information	Fusion gene name: PLEKHG5_SAMD4B
	Fusion gene ID: 27642
		Hgene	Tgene
	Gene symbol	PLEKHG5	SAMD4B
	Gene ID	57449	55095
	Gene name	pleckstrin homology and RhoGEF domain containing G5	sterile alpha motif domain containing 4B
	Synonyms	CMTRIC\|DSMA4\|GEF720\|Syx\|Tech	SMGB\|Smaug2
	Cytomap	1p36.31	19q13.2
	Type of gene	protein-coding	protein-coding
	Description	pleckstrin homology domain-containing family G member 5NFkB activating proteinPH domain-containing family G member 5guanine nucleotide exchange factor 720novel PH domain-containing proteinpleckstrin homology domain containing, family G (with RhoGef d	protein Smaug homolog 2SAM domain-containing protein 4Bsmaug 2smaug homolog Bsterile alpha motif domain-containing protein 4B
	Modification date	20180519	20180523
	UniProtAcc	O94827	Q5PRF9
	Ensembl transtripts involved in fusion gene	ENST00000377748, ENST00000377732, ENST00000400915, ENST00000377740, ENST00000377737, ENST00000537245, ENST00000544978, ENST00000400913, ENST00000340850, ENST00000377725, ENST00000377728, ENST00000535355,	ENST00000598913, ENST00000314471, ENST00000594204, ENST00000596368,
Fusion gene scores	* DoF score	4 X 3 X 4=48	4 X 4 X 4=64
	# samples	4	4
	** MAII score	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PLEKHG5 [Title/Abstract] AND SAMD4B [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	LD	STAD	TCGA-VQ-A8PE-01A	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-3CDS	ENST00000377748	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377748	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377748	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377748	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377732	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377732	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377732	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377732	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000400915	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000400915	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000400915	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000400915	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377740	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377740	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377740	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377740	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377737	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377737	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377737	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377737	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000537245	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000537245	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000537245	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000537245	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000544978	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000544978	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000544978	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000544978	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000400913	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000400913	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000400913	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000400913	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
5UTR-3CDS	ENST00000340850	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
5UTR-3CDS	ENST00000340850	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
5UTR-intron	ENST00000340850	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
5UTR-intron	ENST00000340850	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
5UTR-3CDS	ENST00000377725	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
5UTR-3CDS	ENST00000377725	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
5UTR-intron	ENST00000377725	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
5UTR-intron	ENST00000377725	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377728	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000377728	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377728	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000377728	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000535355	ENST00000598913	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-3CDS	ENST00000535355	ENST00000314471	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000535355	ENST00000594204	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+
intron-intron	ENST00000535355	ENST00000596368	PLEKHG5	chr1	6550505	-	SAMD4B	chr19	39870606	+

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FusionProtFeatures for PLEKHG5_SAMD4B

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
PLEKHG5 O94827	SAMD4B Q5PRF9
	Has transcriptional repressor activity. Overexpressioninhibits the transcriptional activities of AP-1, p53/TP53 andCDKN1A. {ECO:0000269\|PubMed:20510020}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
.

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for PLEKHG5_SAMD4B

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PLEKHG5_SAMD4B

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
PLEKHG5	LNX1, LNX2, RND1, RND2, RND3, BTRC, FBXW11, YWHAE, YWHAZ, YWHAG, PDP1, GNB4, YWHAH, YWHAQ, USP7	SAMD4B	YWHAB, YWHAZ, YWHAG, YWHAQ, ELAVL1, PTPN6, SOX2, MUS81, MKS1, CEP152, CEP89, NIN, XPO1, RGMA, NANOG, SAMD4A, PDP1, YWHAE, ACTA2

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for PLEKHG5_SAMD4B

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for PLEKHG5_SAMD4B

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	PLEKHG5	C0032460	Polycystic Ovary Syndrome	1	CTD_human
Hgene	PLEKHG5	C1970211	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	1	CTD_human;ORPHANET;UNIPROT
Hgene	PLEKHG5	C3809309	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C	1	ORPHANET;UNIPROT

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Fusion gene ID: 27642

FusionGeneSummary for PLEKHG5_SAMD4B

FusionProtFeatures for PLEKHG5_SAMD4B

FusionGeneSequence for PLEKHG5_SAMD4B

FusionGenePPI for PLEKHG5_SAMD4B

RelatedDrugs for PLEKHG5_SAMD4B

RelatedDiseases for PLEKHG5_SAMD4B